Mutagenetix > Incidental Mutation

Incidental Mutation 'R0732:Fam83b'

67661

Institutional Source

Beutler Lab

Gene Symbol

Fam83b

Ensembl Gene

ENSMUSG00000032358

Gene Name

family with sequence similarity 83, member B

Synonyms

C530008M07Rik

MMRRC Submission

038913-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.081) question?

Stock #

R0732 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

76490054-76567116 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 76492928 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Stop codon at position 298 (K298*)

Ref Sequence

ENSEMBL: ENSMUSP00000139354 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000098546] [ENSMUST00000183437]

AlphaFold

Q0VBM2

Predicted Effect

probably null
Transcript: ENSMUST00000098546
AA Change: K298*

SMART Domains

Protein: ENSMUSP00000096146
Gene: ENSMUSG00000032358
AA Change: K298*

Domain	Start	End	E-Value	Type
Pfam:DUF1669	12	282	5.6e-109	PFAM
Pfam:PLDc_2	139	277	2.4e-12	PFAM
low complexity region	557	574	N/A	INTRINSIC
low complexity region	731	742	N/A	INTRINSIC
low complexity region	747	760	N/A	INTRINSIC
low complexity region	826	846	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000183437
AA Change: K298*

SMART Domains

Protein: ENSMUSP00000139354
Gene: ENSMUSG00000032358
AA Change: K298*

Domain	Start	End	E-Value	Type
Pfam:DUF1669	7	283	2.8e-111	PFAM
Pfam:PLDc_2	139	277	2.4e-9	PFAM
low complexity region	557	574	N/A	INTRINSIC
low complexity region	731	742	N/A	INTRINSIC
low complexity region	747	760	N/A	INTRINSIC
low complexity region	826	846	N/A	INTRINSIC

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.4%
20x: 94.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	T	C	6: 128,546,448	Y1175C	probably damaging	Het
Acsm3	T	C	7: 119,773,834	S187P	probably benign	Het
Adam28	T	C	14: 68,637,347	I294V	probably benign	Het
Adgrv1	T	C	13: 81,503,004	I3057M	possibly damaging	Het
Aff4	T	C	11: 53,375,596	V304A	probably benign	Het
Akr1b10	T	C	6: 34,390,109	Y108H	probably benign	Het
Ankib1	T	C	5: 3,713,163	N522S	possibly damaging	Het
Ano1	T	A	7: 144,619,488		probably null	Het
Antxr2	G	T	5: 97,960,708		probably null	Het
Arc	G	A	15: 74,671,195	T393I	probably damaging	Het
Arhgef33	A	G	17: 80,381,354	D5G	possibly damaging	Het
Atf2	A	T	2: 73,845,500	M169K	possibly damaging	Het
BC005624	T	A	2: 30,973,937	T215S	possibly damaging	Het
BC048403	T	C	10: 121,750,947	V253A	possibly damaging	Het
Bmp8b	G	A	4: 123,105,406	G19D	unknown	Het
Cacna1d	T	C	14: 30,042,920	N1987S	probably damaging	Het
Camta1	T	A	4: 151,586,484		probably null	Het
Catsperg2	C	T	7: 29,700,696	G316D	probably damaging	Het
Cbs	G	T	17: 31,625,029	N209K	probably benign	Het
Ccdc122	T	A	14: 77,091,759	M84K	probably damaging	Het
Cd5	C	T	19: 10,723,285	C285Y	probably damaging	Het
Chpf2	T	C	5: 24,590,421	M1T	probably null	Het
Coch	T	A	12: 51,595,372	D42E	probably damaging	Het
Crip2	C	T	12: 113,140,558		probably benign	Het
Crlf2	G	C	5: 109,557,138	P67R	probably damaging	Het
Cxcl16	G	T	11: 70,455,408	P233H	probably damaging	Het
Cyfip1	T	C	7: 55,886,781	I319T	probably damaging	Het
Ddhd2	T	C	8: 25,741,321	Q364R	probably damaging	Het
Ephx2	A	G	14: 66,086,963		probably null	Het
Exoc6b	C	A	6: 84,855,522	V397L	probably damaging	Het
Fbxo8	T	A	8: 56,591,529	I289N	probably damaging	Het
Fkbp9	T	A	6: 56,878,104	M536K	probably benign	Het
Flot1	C	T	17: 35,825,524	R190W	possibly damaging	Het
Gbp2b	T	A	3: 142,606,978	V374E	probably benign	Het
Gm884	T	C	11: 103,619,838	T435A	unknown	Het
Gna15	T	A	10: 81,512,556	S114C	probably damaging	Het
Gstt4	T	A	10: 75,817,321	T136S	probably benign	Het
Hcn3	C	T	3: 89,148,786	V524M	probably damaging	Het
Kctd16	A	T	18: 40,258,563	D68V	probably damaging	Het
Krt90	G	T	15: 101,560,425	F227L	possibly damaging	Het
Maip1	A	G	1: 57,411,835	Y212C	probably damaging	Het
Mamdc2	C	T	19: 23,378,869	D72N	probably damaging	Het
Marveld3	A	T	8: 109,948,483	Y234N	probably damaging	Het
Mas1	A	G	17: 12,841,747	I263T	probably benign	Het
Matk	T	A	10: 81,258,306		probably null	Het
Mrgpre	T	A	7: 143,781,566	I67F	possibly damaging	Het
Mthfd1	T	A	12: 76,294,174	I449N	probably damaging	Het
Nacc1	C	T	8: 84,676,201	R321Q	probably damaging	Het
Neb	T	C	2: 52,258,681	D2618G	probably damaging	Het
Neb	T	C	2: 52,291,268	Y1109C	probably damaging	Het
Nell1	T	G	7: 50,856,387	W781G	probably damaging	Het
Olfr1037	A	C	2: 86,085,584	S64R	probably benign	Het
Olfr1269	A	G	2: 90,119,322	V92A	probably benign	Het
Olfr1279	T	A	2: 111,306,980	Y258*	probably null	Het
Olfr281	T	C	15: 98,457,078	L256S	possibly damaging	Het
Olfr424	A	T	1: 174,137,415	I224F	possibly damaging	Het
Olfr497	C	A	7: 108,422,577	A2D	probably benign	Het
Olfr544	T	C	7: 102,484,443	I226V	probably benign	Het
Olfr646	T	C	7: 104,106,294	L5P	probably damaging	Het
Pcdh7	C	A	5: 57,721,315	D737E	probably damaging	Het
Pdss1	T	G	2: 22,901,312	M55R	probably benign	Het
Pex6	C	T	17: 46,724,700	R889W	probably damaging	Het
Pigl	T	A	11: 62,458,481	C8S	possibly damaging	Het
Plekha7	A	T	7: 116,145,237	M585K	probably damaging	Het
Ppp1r1a	C	T	15: 103,533,087	M66I	possibly damaging	Het
Ptcd3	A	T	6: 71,881,171		probably benign	Het
Rhov	A	T	2: 119,271,014	V37E	probably damaging	Het
Rnf213	A	T	11: 119,441,068	M2368L	probably damaging	Het
Skida1	T	C	2: 18,046,157		probably benign	Het
Slc25a28	T	C	19: 43,666,953	D161G	probably benign	Het
Smc6	T	C	12: 11,290,817	V490A	probably damaging	Het
Sohlh2	T	A	3: 55,190,373		probably null	Het
Stk31	A	G	6: 49,417,495	T264A	probably benign	Het
Syngap1	T	A	17: 26,954,988	S190R	possibly damaging	Het
Tacr1	T	A	6: 82,552,901	V200E	probably damaging	Het
Tbrg4	C	T	11: 6,620,812	R220H	probably benign	Het
Tcf20	A	G	15: 82,852,303	L1649P	probably benign	Het
Tcirg1	A	T	19: 3,897,866	L523Q	possibly damaging	Het
Tinag	T	A	9: 77,001,654	K335M	possibly damaging	Het
Tkt	T	G	14: 30,571,140		probably null	Het
Tnpo1	C	T	13: 98,863,812	R349H	probably damaging	Het
Trim26	T	A	17: 36,852,618	S230R	possibly damaging	Het
Trim8	T	A	19: 46,514,739		probably null	Het
Trp53bp1	T	C	2: 121,248,264	R326G	probably null	Het
Ugt2a2	A	T	5: 87,460,639	I613N	probably damaging	Het
Vmn1r32	T	C	6: 66,553,706	I29V	probably benign	Het
Wnt5b	C	T	6: 119,446,582	W27*	probably null	Het

Other mutations in Fam83b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00236:Fam83b	APN	9	76490978	missense	probably benign	0.00
IGL01554:Fam83b	APN	9	76502121	missense	probably benign	0.33
IGL01694:Fam83b	APN	9	76490990	missense	probably benign	0.13
IGL02009:Fam83b	APN	9	76492322	missense	probably damaging	1.00
IGL02531:Fam83b	APN	9	76492000	missense	possibly damaging	0.61
IGL03328:Fam83b	APN	9	76493042	missense	probably benign	0.01
PIT4581001:Fam83b	UTSW	9	76491152	missense	probably damaging	1.00
R0110:Fam83b	UTSW	9	76492826	missense	possibly damaging	0.75
R0469:Fam83b	UTSW	9	76492826	missense	possibly damaging	0.75
R0510:Fam83b	UTSW	9	76492826	missense	possibly damaging	0.75
R0946:Fam83b	UTSW	9	76491397	missense	probably damaging	0.96
R0961:Fam83b	UTSW	9	76491295	missense	probably damaging	0.97
R1101:Fam83b	UTSW	9	76545670	missense	possibly damaging	0.68
R1200:Fam83b	UTSW	9	76492312	missense	probably damaging	1.00
R1248:Fam83b	UTSW	9	76503076	missense	probably benign	0.35
R1420:Fam83b	UTSW	9	76492612	missense	possibly damaging	0.94
R1429:Fam83b	UTSW	9	76492577	missense	probably benign
R1939:Fam83b	UTSW	9	76493080	missense	probably damaging	1.00
R1992:Fam83b	UTSW	9	76492022	missense	probably benign
R2102:Fam83b	UTSW	9	76492705	missense	probably damaging	0.96
R2134:Fam83b	UTSW	9	76491016	missense	probably damaging	1.00
R2398:Fam83b	UTSW	9	76502218	missense	probably damaging	1.00
R2878:Fam83b	UTSW	9	76490810	missense	probably damaging	1.00
R4092:Fam83b	UTSW	9	76491661	missense	probably benign	0.24
R4204:Fam83b	UTSW	9	76503053	missense	probably benign	0.09
R4537:Fam83b	UTSW	9	76492142	missense	probably benign	0.10
R4920:Fam83b	UTSW	9	76491868	missense	probably benign
R5456:Fam83b	UTSW	9	76492595	missense	probably benign
R5473:Fam83b	UTSW	9	76491500	missense	probably damaging	1.00
R5488:Fam83b	UTSW	9	76545599	missense	probably benign	0.05
R5489:Fam83b	UTSW	9	76545599	missense	probably benign	0.05
R5876:Fam83b	UTSW	9	76491850	missense	possibly damaging	0.92
R6150:Fam83b	UTSW	9	76492357	missense	probably damaging	1.00
R6374:Fam83b	UTSW	9	76492907	missense	probably benign	0.31
R6468:Fam83b	UTSW	9	76502131	nonsense	probably null
R6912:Fam83b	UTSW	9	76490932	missense	probably damaging	0.99
R7022:Fam83b	UTSW	9	76502112	frame shift	probably null
R7073:Fam83b	UTSW	9	76545749	missense	probably benign	0.18
R7356:Fam83b	UTSW	9	76492853	missense	probably benign	0.05
R7665:Fam83b	UTSW	9	76490875	missense	probably damaging	1.00
R7762:Fam83b	UTSW	9	76492432	missense	possibly damaging	0.87
R7790:Fam83b	UTSW	9	76492048	missense	probably benign	0.01
R7869:Fam83b	UTSW	9	76492144	missense	possibly damaging	0.78
R7879:Fam83b	UTSW	9	76492455	missense	possibly damaging	0.76
R7957:Fam83b	UTSW	9	76491985	missense	probably benign	0.00
R8067:Fam83b	UTSW	9	76491098	missense	probably benign
R8983:Fam83b	UTSW	9	76493075	missense	probably damaging	1.00
R9361:Fam83b	UTSW	9	76492794	missense	probably benign	0.03
R9405:Fam83b	UTSW	9	76491421	missense	possibly damaging	0.93
R9475:Fam83b	UTSW	9	76491803	missense	probably benign	0.31
R9656:Fam83b	UTSW	9	76545581	missense	probably benign	0.02
R9690:Fam83b	UTSW	9	76491220	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TGGGCAAGCCGATCAGCAAAAC -3'
(R):5'- TGGTCATTTGAGAAAGCTCATCTCAGC -3'

Sequencing Primer
(F):5'- CCCTTAATGAGGATGCTACACTGAG -3'
(R):5'- GAAAGCTCATCTCAGCATGGTTC -3'

Posted On

2013-09-03